| Transcript | Gene symbol | Prediction | Tree vote | Model | Prediction problem | Splice site change | Known ClinVar disease mutation | Potential ClinVar disease mutation | Amino acid changes | Variant type | dbSNP ID | Protein length | Features at a glance |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| DHCR7 | Deleterious | 99|1 | simple_ | No | Single base exchange | Normal |
| ||||||
ENST00000355527(MANE Select) | DHCR7 | Deleterious | 99|1 | simple_ | No | Single base exchange | Normal |
| |||||
| DHCR7 | Deleterious | 99|1 | simple_ | No | Single base exchange | Normal |
| ||||||
| DHCR7 | Deleterious | 100|0 | simple_ | No | Single base exchange | Normal |
| ||||||
| DHCR7 | Deleterious | 100|0 | simple_ | No | Single base exchange | Normal |
| ||||||
| DHCR7 | Deleterious | 100|0 | simple_ | No | Single base exchange | Normal |
| ||||||
| DHCR7 | Deleterious | 100|0 | simple_ | No | Single base exchange | Normal |
| ||||||
| DHCR7 | Deleterious | 100|0 | simple_ | No | Single base exchange | Normal |
| ||||||
| DHCR7 | Deleterious | 100|0 | simple_ | No | Single base exchange | Normal |
| ||||||
| DHCR7 | Deleterious | 100|0 | simple_ | No | Single base exchange | Normal |
| ||||||
| DHCR7 | Deleterious | 100|0 | 5utr | No | Single base exchange | N/A |
| Analysed issue | Analysis result | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Variant | Chr11:71441401C>A (GRCh38) | |||||||||||||
| Gene symbol | DHCR7 | |||||||||||||
| Gene constraints | LOEUF: 1.17, LOF (oe): 0.92, misssense (oe): 0.93, synonymous (oe): 1.07 (gnomAD) | |||||||||||||
| Ensembl transcript ID | ENST00000683714.1 | |||||||||||||
| Genbank transcript ID | ||||||||||||||
| UniProt / AlphaMissense peptide | N/A | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | CDS | |||||||||||||
| DNA changes | c.452G>T g.11468G>T | |||||||||||||
| AA changes |
| |||||||||||||
| Frameshift | No | |||||||||||||
| Length of protein | Normal | |||||||||||||
| Pathogenic variant (ClinVar) | Variant not listed in ClinVar as (likely) pathogenic. | |||||||||||||
| Variant DBs |
| |||||||||||||
| Protein conservation | ||||||||||||||
| Protein features | N/A | |||||||||||||
| Phylogenetic conservation |
| |||||||||||||
| Splice sites | No abrogation of potential splice sites predicted by MaxEntScan. | |||||||||||||
| Distance from splice site | N/A | |||||||||||||
| Kozak consensus sequence altered? | No | |||||||||||||
| poly(A) signal | N/A | |||||||||||||
| AA sequence altered | Yes | |||||||||||||
| Chromosome | 11 | |||||||||||||
| Strand | -1 | |||||||||||||
| Original gDNA sequence snippet | GATCAATGGCCTGCAAGCCTGGCTCCTCACGCACCTGCTCT | |||||||||||||
| Altered gDNA sequence snippet | GATCAATGGCCTGCAAGCCTTGCTCCTCACGCACCTGCTCT | |||||||||||||
| Original cDNA sequence snippet | GATCAATGGCCTGCAAGCCTGGCTCCTCACGCACCTGCTCT | |||||||||||||
| Altered cDNA sequence snippet | GATCAATGGCCTGCAAGCCTTGCTCCTCACGCACCTGCTCT | |||||||||||||
| Wildtype AA sequence | MAAKSQPNIP KAKSLDGVTN DRTASQGQWG RAWEVDWFSL ASVIFLLLFA PFIVYYFIMA CDQYSCALTG PVVDIVTGHA RLSDIWAKTP PITRKAAQLY TLWVTFQVLL YTSLPDFCHK FLPGYVGGIQ EGAVTPAGVV NKYQINGLQA WLLTHLLWFA NAHLLSWFSP TIIFDNWIPL LWCANILGYA VSTFAMVKGY FFPTSARDCK FTGNFFYNYM MGIEFNPRIG KWFDFKLFFN GRPGIVAWTL INLSFAAKQR ELHSHVTNAM VLVNVLQAIY VIDFFWNETW YLKTIDICHD HFGWYLGWGD CVWLPYLYTL QVRRVCTWCT TPCSCPPRTP WASCCWAWWA TTSSGWPTTR RTCSAARMGA ASSGAGSPRS SSAPTHPPMG RGTTASCWCR ASGAWPATST TSAT* | |||||||||||||
| Mutated AA sequence | MAAKSQPNIP KAKSLDGVTN DRTASQGQWG RAWEVDWFSL ASVIFLLLFA PFIVYYFIMA CDQYSCALTG PVVDIVTGHA RLSDIWAKTP PITRKAAQLY TLWVTFQVLL YTSLPDFCHK FLPGYVGGIQ EGAVTPAGVV NKYQINGLQA LLLTHLLWFA NAHLLSWFSP TIIFDNWIPL LWCANILGYA VSTFAMVKGY FFPTSARDCK FTGNFFYNYM MGIEFNPRIG KWFDFKLFFN GRPGIVAWTL INLSFAAKQR ELHSHVTNAM VLVNVLQAIY VIDFFWNETW YLKTIDICHD HFGWYLGWGD CVWLPYLYTL QVRRVCTWCT TPCSCPPRTP WASCCWAWWA TTSSGWPTTR RTCSAARMGA ASSGAGSPRS SSAPTHPPMG RGTTASCWCR ASGAWPATST TSAT* | |||||||||||||
| Position of stopcodon in wt / mu CDS | 1245 / 1245 | |||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 415 / 415 | |||||||||||||
| Position of stopcodon in wt / mu cDNA | 1522 / 1522 | |||||||||||||
| Position of start ATG in wt / mu cDNA | 278 / 278 | |||||||||||||
| Last intron/exon boundary | 1248 | |||||||||||||
| Theoretical NMD boundary in CDS | 920 | |||||||||||||
| Length of CDS | 1245 | |||||||||||||
| Coding sequence (CDS) position | 452 | |||||||||||||
| cDNA position | 729 | |||||||||||||
| gDNA position | 11468 | |||||||||||||
| Chromosomal position | 71441401 | |||||||||||||
| Speed | 0.05 s | |||||||||||||
All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
| Analysed issue | Analysis result | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Variant | Chr11:71441401C>A (GRCh38) | |||||||||||||
| Gene symbol | DHCR7 | |||||||||||||
| Gene constraints | LOEUF: 1.09, LOF (oe): 0.84, misssense (oe): 0.92, synonymous (oe): 1.08 (gnomAD) | |||||||||||||
| Ensembl transcript ID | ENST00000355527.8 | |||||||||||||
| Genbank transcript ID | NM_001360 (exact from MANE), NM_001425110 (by similarity) | |||||||||||||
| UniProt / AlphaMissense peptide | DHCR7_HUMAN | AlphaMissense: transcript, gene | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | CDS | |||||||||||||
| DNA changes | c.452G>T g.11468G>T | |||||||||||||
| AA changes |
| |||||||||||||
| Frameshift | No | |||||||||||||
| Length of protein | Normal | |||||||||||||
| Pathogenic variant (ClinVar) | Variant not listed in ClinVar as (likely) pathogenic. | |||||||||||||
| Variant DBs |
| |||||||||||||
| Protein conservation | ||||||||||||||
| Protein features |
| |||||||||||||
| Phylogenetic conservation |
| |||||||||||||
| Splice sites | No abrogation of potential splice sites predicted by MaxEntScan. | |||||||||||||
| Distance from splice site | N/A | |||||||||||||
| Kozak consensus sequence altered? | No | |||||||||||||
| poly(A) signal | N/A | |||||||||||||
| AA sequence altered | Yes | |||||||||||||
| Chromosome | 11 | |||||||||||||
| Strand | -1 | |||||||||||||
| Original gDNA sequence snippet | GATCAATGGCCTGCAAGCCTGGCTCCTCACGCACCTGCTCT | |||||||||||||
| Altered gDNA sequence snippet | GATCAATGGCCTGCAAGCCTTGCTCCTCACGCACCTGCTCT | |||||||||||||
| Original cDNA sequence snippet | GATCAATGGCCTGCAAGCCTGGCTCCTCACGCACCTGCTCT | |||||||||||||
| Altered cDNA sequence snippet | GATCAATGGCCTGCAAGCCTTGCTCCTCACGCACCTGCTCT | |||||||||||||
| Wildtype AA sequence | MAAKSQPNIP KAKSLDGVTN DRTASQGQWG RAWEVDWFSL ASVIFLLLFA PFIVYYFIMA CDQYSCALTG PVVDIVTGHA RLSDIWAKTP PITRKAAQLY TLWVTFQVLL YTSLPDFCHK FLPGYVGGIQ EGAVTPAGVV NKYQINGLQA WLLTHLLWFA NAHLLSWFSP TIIFDNWIPL LWCANILGYA VSTFAMVKGY FFPTSARDCK FTGNFFYNYM MGIEFNPRIG KWFDFKLFFN GRPGIVAWTL INLSFAAKQR ELHSHVTNAM VLVNVLQAIY VIDFFWNETW YLKTIDICHD HFGWYLGWGD CVWLPYLYTL QGLYLVYHPV QLSTPHAVGV LLLGLVGYYI FRVANHQKDL FRRTDGRCLI WGRKPKVIEC SYTSADGQRH HSKLLVSGFW GVARHFNYVG DLMGSLAYCL ACGGGHLLPY FYIIYMAILL THRCLRDEHR CASKYGRDWE RYTAAVPYRL LPGIF* | |||||||||||||
| Mutated AA sequence | MAAKSQPNIP KAKSLDGVTN DRTASQGQWG RAWEVDWFSL ASVIFLLLFA PFIVYYFIMA CDQYSCALTG PVVDIVTGHA RLSDIWAKTP PITRKAAQLY TLWVTFQVLL YTSLPDFCHK FLPGYVGGIQ EGAVTPAGVV NKYQINGLQA LLLTHLLWFA NAHLLSWFSP TIIFDNWIPL LWCANILGYA VSTFAMVKGY FFPTSARDCK FTGNFFYNYM MGIEFNPRIG KWFDFKLFFN GRPGIVAWTL INLSFAAKQR ELHSHVTNAM VLVNVLQAIY VIDFFWNETW YLKTIDICHD HFGWYLGWGD CVWLPYLYTL QGLYLVYHPV QLSTPHAVGV LLLGLVGYYI FRVANHQKDL FRRTDGRCLI WGRKPKVIEC SYTSADGQRH HSKLLVSGFW GVARHFNYVG DLMGSLAYCL ACGGGHLLPY FYIIYMAILL THRCLRDEHR CASKYGRDWE RYTAAVPYRL LPGIF* | |||||||||||||
| Position of stopcodon in wt / mu CDS | 1428 / 1428 | |||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 476 / 476 | |||||||||||||
| Position of stopcodon in wt / mu cDNA | 1663 / 1663 | |||||||||||||
| Position of start ATG in wt / mu cDNA | 236 / 236 | |||||||||||||
| Last intron/exon boundary | 1198 | |||||||||||||
| Theoretical NMD boundary in CDS | 912 | |||||||||||||
| Length of CDS | 1428 | |||||||||||||
| Coding sequence (CDS) position | 452 | |||||||||||||
| cDNA position | 687 | |||||||||||||
| gDNA position | 11468 | |||||||||||||
| Chromosomal position | 71441401 | |||||||||||||
| Speed | 0.05 s | |||||||||||||
All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
| Analysed issue | Analysis result | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Variant | Chr11:71441401C>A (GRCh38) | |||||||||||||
| Gene symbol | DHCR7 | |||||||||||||
| Gene constraints | LOEUF: 1.26, LOF (oe): 0.94, misssense (oe): 0.90, synonymous (oe): 1.11 (gnomAD) | |||||||||||||
| Ensembl transcript ID | ENST00000682880.1 | |||||||||||||
| Genbank transcript ID | ||||||||||||||
| UniProt / AlphaMissense peptide | N/A | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | CDS | |||||||||||||
| DNA changes | c.452G>T g.11468G>T | |||||||||||||
| AA changes |
| |||||||||||||
| Frameshift | No | |||||||||||||
| Length of protein | Normal | |||||||||||||
| Pathogenic variant (ClinVar) | Variant not listed in ClinVar as (likely) pathogenic. | |||||||||||||
| Variant DBs |
| |||||||||||||
| Protein conservation | ||||||||||||||
| Protein features | N/A | |||||||||||||
| Phylogenetic conservation |
| |||||||||||||
| Splice sites | No abrogation of potential splice sites predicted by MaxEntScan. | |||||||||||||
| Distance from splice site | N/A | |||||||||||||
| Kozak consensus sequence altered? | No | |||||||||||||
| poly(A) signal | N/A | |||||||||||||
| AA sequence altered | Yes | |||||||||||||
| Chromosome | 11 | |||||||||||||
| Strand | -1 | |||||||||||||
| Original gDNA sequence snippet | GATCAATGGCCTGCAAGCCTGGCTCCTCACGCACCTGCTCT | |||||||||||||
| Altered gDNA sequence snippet | GATCAATGGCCTGCAAGCCTTGCTCCTCACGCACCTGCTCT | |||||||||||||
| Original cDNA sequence snippet | GATCAATGGCCTGCAAGCCTGGCTCCTCACGCACCTGCTCT | |||||||||||||
| Altered cDNA sequence snippet | GATCAATGGCCTGCAAGCCTTGCTCCTCACGCACCTGCTCT | |||||||||||||
| Wildtype AA sequence | MAAKSQPNIP KAKSLDGVTN DRTASQGQWG RAWEVDWFSL ASVIFLLLFA PFIVYYFIMA CDQYSCALTG PVVDIVTGHA RLSDIWAKTP PITRKAAQLY TLWVTFQVLL YTSLPDFCHK FLPGYVGGIQ EGAVTPAGVV NKYQINGLQA WLLTHLLWFA NAHLLSWFSP TIIFDNWIPL LWCANILGYA VSTFAMVKGY FFPTSARDCK FTGNFFYNYM MGIEFNPRIG KWFDFKLFFN GRPGIVAWTL INLSFAAKQR ELHSHVTNAM VLVNVLQAIY VIDFFWNETW YLKTIDICHD HFGWYLGWGD CVWLPYLYTL QVRRWAELAQ RGIWQTHAKL SPCRSVCPWG HQSCPLFLGR REGLVY* | |||||||||||||
| Mutated AA sequence | MAAKSQPNIP KAKSLDGVTN DRTASQGQWG RAWEVDWFSL ASVIFLLLFA PFIVYYFIMA CDQYSCALTG PVVDIVTGHA RLSDIWAKTP PITRKAAQLY TLWVTFQVLL YTSLPDFCHK FLPGYVGGIQ EGAVTPAGVV NKYQINGLQA LLLTHLLWFA NAHLLSWFSP TIIFDNWIPL LWCANILGYA VSTFAMVKGY FFPTSARDCK FTGNFFYNYM MGIEFNPRIG KWFDFKLFFN GRPGIVAWTL INLSFAAKQR ELHSHVTNAM VLVNVLQAIY VIDFFWNETW YLKTIDICHD HFGWYLGWGD CVWLPYLYTL QVRRWAELAQ RGIWQTHAKL SPCRSVCPWG HQSCPLFLGR REGLVY* | |||||||||||||
| Position of stopcodon in wt / mu CDS | 1101 / 1101 | |||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 367 / 367 | |||||||||||||
| Position of stopcodon in wt / mu cDNA | 1378 / 1378 | |||||||||||||
| Position of start ATG in wt / mu cDNA | 278 / 278 | |||||||||||||
| Last intron/exon boundary | 1108 | |||||||||||||
| Theoretical NMD boundary in CDS | 780 | |||||||||||||
| Length of CDS | 1101 | |||||||||||||
| Coding sequence (CDS) position | 452 | |||||||||||||
| cDNA position | 729 | |||||||||||||
| gDNA position | 11468 | |||||||||||||
| Chromosomal position | 71441401 | |||||||||||||
| Speed | 0.03 s | |||||||||||||
All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
| Analysed issue | Analysis result | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Variant | Chr11:71441401C>A (GRCh38) | |||||||||||||
| Gene symbol | DHCR7 | |||||||||||||
| Gene constraints | LOEUF: 1.06, LOF (oe): 0.81, misssense (oe): 0.92, synonymous (oe): 1.06 (gnomAD) | |||||||||||||
| Ensembl transcript ID | ENST00000690257.1 | |||||||||||||
| Genbank transcript ID | NM_001425114 (by similarity) | |||||||||||||
| UniProt / AlphaMissense peptide | N/A | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | CDS | |||||||||||||
| DNA changes | c.356G>T g.11468G>T | |||||||||||||
| AA changes |
| |||||||||||||
| Frameshift | No | |||||||||||||
| Length of protein | Normal | |||||||||||||
| Pathogenic variant (ClinVar) | Variant not listed in ClinVar as (likely) pathogenic. | |||||||||||||
| Variant DBs |
| |||||||||||||
| Protein conservation | ||||||||||||||
| Protein features | N/A | |||||||||||||
| Phylogenetic conservation |
| |||||||||||||
| Splice sites | No abrogation of potential splice sites predicted by MaxEntScan. | |||||||||||||
| Distance from splice site | N/A | |||||||||||||
| Kozak consensus sequence altered? | No | |||||||||||||
| poly(A) signal | N/A | |||||||||||||
| AA sequence altered | Yes | |||||||||||||
| Chromosome | 11 | |||||||||||||
| Strand | -1 | |||||||||||||
| Original gDNA sequence snippet | GATCAATGGCCTGCAAGCCTGGCTCCTCACGCACCTGCTCT | |||||||||||||
| Altered gDNA sequence snippet | GATCAATGGCCTGCAAGCCTTGCTCCTCACGCACCTGCTCT | |||||||||||||
| Original cDNA sequence snippet | GATCAATGGCCTGCAAGCCTGGCTCCTCACGCACCTGCTCT | |||||||||||||
| Altered cDNA sequence snippet | GATCAATGGCCTGCAAGCCTTGCTCCTCACGCACCTGCTCT | |||||||||||||
| Wildtype AA sequence | MAAKSQPNIP KAKSLDGVTN DRTASQGQWG RACCALTGPV VDIVTGHARL SDIWAKTPPI TRKAAQLYTL WVTFQVLLYT SLPDFCHKFL PGYVGGIQEG AVTPAGVVNK YQINGLQAWL LTHLLWFANA HLLSWFSPTI IFDNWIPLLW CANILGYAVS TFAMVKGYFF PTSARDCKFT GNFFYNYMMG IEFNPRIGKW FDFKLFFNGR PGIVAWTLIN LSFAAKQREL HSHVTNAMVL VNVLQAIYVI DFFWNETWYL KTIDICHDHF GWYLGWGDCV WLPYLYTLQG LYLVYHPVQL STPHAVGVLL LGLVGYYIFR VANHQKDLFR RTDGRCLIWG RKPKVIECSY TSADGQRHHS KLLVSGFWGV ARHFNYVGDL MGSLAYCLAC GGGHLLPYFY IIYMAILLTH RCLRDEHRCA SKYGRDWERY TAAVPYRLLP GIF* | |||||||||||||
| Mutated AA sequence | MAAKSQPNIP KAKSLDGVTN DRTASQGQWG RACCALTGPV VDIVTGHARL SDIWAKTPPI TRKAAQLYTL WVTFQVLLYT SLPDFCHKFL PGYVGGIQEG AVTPAGVVNK YQINGLQALL LTHLLWFANA HLLSWFSPTI IFDNWIPLLW CANILGYAVS TFAMVKGYFF PTSARDCKFT GNFFYNYMMG IEFNPRIGKW FDFKLFFNGR PGIVAWTLIN LSFAAKQREL HSHVTNAMVL VNVLQAIYVI DFFWNETWYL KTIDICHDHF GWYLGWGDCV WLPYLYTLQG LYLVYHPVQL STPHAVGVLL LGLVGYYIFR VANHQKDLFR RTDGRCLIWG RKPKVIECSY TSADGQRHHS KLLVSGFWGV ARHFNYVGDL MGSLAYCLAC GGGHLLPYFY IIYMAILLTH RCLRDEHRCA SKYGRDWERY TAAVPYRLLP GIF* | |||||||||||||
| Position of stopcodon in wt / mu CDS | 1332 / 1332 | |||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 444 / 444 | |||||||||||||
| Position of stopcodon in wt / mu cDNA | 1561 / 1561 | |||||||||||||
| Position of start ATG in wt / mu cDNA | 230 / 230 | |||||||||||||
| Last intron/exon boundary | 1096 | |||||||||||||
| Theoretical NMD boundary in CDS | 816 | |||||||||||||
| Length of CDS | 1332 | |||||||||||||
| Coding sequence (CDS) position | 356 | |||||||||||||
| cDNA position | 585 | |||||||||||||
| gDNA position | 11468 | |||||||||||||
| Chromosomal position | 71441401 | |||||||||||||
| Speed | 0.03 s | |||||||||||||
All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
| Analysed issue | Analysis result | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Variant | Chr11:71441401C>A (GRCh38) | |||||||||||||
| Gene symbol | DHCR7 | |||||||||||||
| Gene constraints | LOEUF: 1.09, LOF (oe): 0.84, misssense (oe): 0.92, synonymous (oe): 1.08 (gnomAD) | |||||||||||||
| Ensembl transcript ID | ENST00000525346.6 | |||||||||||||
| Genbank transcript ID | ||||||||||||||
| UniProt / AlphaMissense peptide | DHCR7_HUMAN | AlphaMissense: transcript, gene | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | CDS | |||||||||||||
| DNA changes | c.452G>T g.11468G>T | |||||||||||||
| AA changes |
| |||||||||||||
| Frameshift | No | |||||||||||||
| Length of protein | Normal | |||||||||||||
| Pathogenic variant (ClinVar) | Variant not listed in ClinVar as (likely) pathogenic. | |||||||||||||
| Variant DBs |
| |||||||||||||
| Protein conservation | ||||||||||||||
| Protein features |
| |||||||||||||
| Phylogenetic conservation |
| |||||||||||||
| Splice sites | No abrogation of potential splice sites predicted by MaxEntScan. | |||||||||||||
| Distance from splice site | N/A | |||||||||||||
| Kozak consensus sequence altered? | No | |||||||||||||
| poly(A) signal | N/A | |||||||||||||
| AA sequence altered | Yes | |||||||||||||
| Chromosome | 11 | |||||||||||||
| Strand | -1 | |||||||||||||
| Original gDNA sequence snippet | GATCAATGGCCTGCAAGCCTGGCTCCTCACGCACCTGCTCT | |||||||||||||
| Altered gDNA sequence snippet | GATCAATGGCCTGCAAGCCTTGCTCCTCACGCACCTGCTCT | |||||||||||||
| Original cDNA sequence snippet | GATCAATGGCCTGCAAGCCTGGCTCCTCACGCACCTGCTCT | |||||||||||||
| Altered cDNA sequence snippet | GATCAATGGCCTGCAAGCCTTGCTCCTCACGCACCTGCTCT | |||||||||||||
| Wildtype AA sequence | MAAKSQPNIP KAKSLDGVTN DRTASQGQWG RAWEVDWFSL ASVIFLLLFA PFIVYYFIMA CDQYSCALTG PVVDIVTGHA RLSDIWAKTP PITRKAAQLY TLWVTFQVLL YTSLPDFCHK FLPGYVGGIQ EGAVTPAGVV NKYQINGLQA WLLTHLLWFA NAHLLSWFSP TIIFDNWIPL LWCANILGYA VSTFAMVKGY FFPTSARDCK FTGNFFYNYM MGIEFNPRIG KWFDFKLFFN GRPGIVAWTL INLSFAAKQR ELHSHVTNAM VLVNVLQAIY VIDFFWNETW YLKTIDICHD HFGWYLGWGD CVWLPYLYTL QGLYLVYHPV QLSTPHAVGV LLLGLVGYYI FRVANHQKDL FRRTDGRCLI WGRKPKVIEC SYTSADGQRH HSKLLVSGFW GVARHFNYVG DLMGSLAYCL ACGGGHLLPY FYIIYMAILL THRCLRDEHR CASKYGRDWE RYTAAVPYRL LPGIF* | |||||||||||||
| Mutated AA sequence | MAAKSQPNIP KAKSLDGVTN DRTASQGQWG RAWEVDWFSL ASVIFLLLFA PFIVYYFIMA CDQYSCALTG PVVDIVTGHA RLSDIWAKTP PITRKAAQLY TLWVTFQVLL YTSLPDFCHK FLPGYVGGIQ EGAVTPAGVV NKYQINGLQA LLLTHLLWFA NAHLLSWFSP TIIFDNWIPL LWCANILGYA VSTFAMVKGY FFPTSARDCK FTGNFFYNYM MGIEFNPRIG KWFDFKLFFN GRPGIVAWTL INLSFAAKQR ELHSHVTNAM VLVNVLQAIY VIDFFWNETW YLKTIDICHD HFGWYLGWGD CVWLPYLYTL QGLYLVYHPV QLSTPHAVGV LLLGLVGYYI FRVANHQKDL FRRTDGRCLI WGRKPKVIEC SYTSADGQRH HSKLLVSGFW GVARHFNYVG DLMGSLAYCL ACGGGHLLPY FYIIYMAILL THRCLRDEHR CASKYGRDWE RYTAAVPYRL LPGIF* | |||||||||||||
| Position of stopcodon in wt / mu CDS | 1428 / 1428 | |||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 476 / 476 | |||||||||||||
| Position of stopcodon in wt / mu cDNA | 1649 / 1649 | |||||||||||||
| Position of start ATG in wt / mu cDNA | 222 / 222 | |||||||||||||
| Last intron/exon boundary | 1184 | |||||||||||||
| Theoretical NMD boundary in CDS | 912 | |||||||||||||
| Length of CDS | 1428 | |||||||||||||
| Coding sequence (CDS) position | 452 | |||||||||||||
| cDNA position | 673 | |||||||||||||
| gDNA position | 11468 | |||||||||||||
| Chromosomal position | 71441401 | |||||||||||||
| Speed | 0.04 s | |||||||||||||
All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
| Analysed issue | Analysis result | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Variant | Chr11:71441401C>A (GRCh38) | |||||||||||||
| Gene symbol | DHCR7 | |||||||||||||
| Gene constraints | LOEUF: 1.09, LOF (oe): 0.84, misssense (oe): 0.92, synonymous (oe): 1.08 (gnomAD) | |||||||||||||
| Ensembl transcript ID | ENST00000526780.6 | |||||||||||||
| Genbank transcript ID | ||||||||||||||
| UniProt / AlphaMissense peptide | DHCR7_HUMAN | AlphaMissense: transcript, gene | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | CDS | |||||||||||||
| DNA changes | c.452G>T g.11468G>T | |||||||||||||
| AA changes |
| |||||||||||||
| Frameshift | No | |||||||||||||
| Length of protein | Normal | |||||||||||||
| Pathogenic variant (ClinVar) | Variant not listed in ClinVar as (likely) pathogenic. | |||||||||||||
| Variant DBs |
| |||||||||||||
| Protein conservation | ||||||||||||||
| Protein features |
| |||||||||||||
| Phylogenetic conservation |
| |||||||||||||
| Splice sites | No abrogation of potential splice sites predicted by MaxEntScan. | |||||||||||||
| Distance from splice site | N/A | |||||||||||||
| Kozak consensus sequence altered? | No | |||||||||||||
| poly(A) signal | N/A | |||||||||||||
| AA sequence altered | Yes | |||||||||||||
| Chromosome | 11 | |||||||||||||
| Strand | -1 | |||||||||||||
| Original gDNA sequence snippet | GATCAATGGCCTGCAAGCCTGGCTCCTCACGCACCTGCTCT | |||||||||||||
| Altered gDNA sequence snippet | GATCAATGGCCTGCAAGCCTTGCTCCTCACGCACCTGCTCT | |||||||||||||
| Original cDNA sequence snippet | GATCAATGGCCTGCAAGCCTGGCTCCTCACGCACCTGCTCT | |||||||||||||
| Altered cDNA sequence snippet | GATCAATGGCCTGCAAGCCTTGCTCCTCACGCACCTGCTCT | |||||||||||||
| Wildtype AA sequence | MAAKSQPNIP KAKSLDGVTN DRTASQGQWG RAWEVDWFSL ASVIFLLLFA PFIVYYFIMA CDQYSCALTG PVVDIVTGHA RLSDIWAKTP PITRKAAQLY TLWVTFQVLL YTSLPDFCHK FLPGYVGGIQ EGAVTPAGVV NKYQINGLQA WLLTHLLWFA NAHLLSWFSP TIIFDNWIPL LWCANILGYA VSTFAMVKGY FFPTSARDCK FTGNFFYNYM MGIEFNPRIG KWFDFKLFFN GRPGIVAWTL INLSFAAKQR ELHSHVTNAM VLVNVLQAIY VIDFFWNETW YLKTIDICHD HFGWYLGWGD CVWLPYLYTL QGLYLVYHPV QLSTPHAVGV LLLGLVGYYI FRVANHQKDL FRRTDGRCLI WGRKPKVIEC SYTSADGQRH HSKLLVSGFW GVARHFNYVG DLMGSLAYCL ACGGGHLLPY FYIIYMAILL THRCLRDEHR CASKYGRDWE RYTAAVPYRL LPGIF* | |||||||||||||
| Mutated AA sequence | MAAKSQPNIP KAKSLDGVTN DRTASQGQWG RAWEVDWFSL ASVIFLLLFA PFIVYYFIMA CDQYSCALTG PVVDIVTGHA RLSDIWAKTP PITRKAAQLY TLWVTFQVLL YTSLPDFCHK FLPGYVGGIQ EGAVTPAGVV NKYQINGLQA LLLTHLLWFA NAHLLSWFSP TIIFDNWIPL LWCANILGYA VSTFAMVKGY FFPTSARDCK FTGNFFYNYM MGIEFNPRIG KWFDFKLFFN GRPGIVAWTL INLSFAAKQR ELHSHVTNAM VLVNVLQAIY VIDFFWNETW YLKTIDICHD HFGWYLGWGD CVWLPYLYTL QGLYLVYHPV QLSTPHAVGV LLLGLVGYYI FRVANHQKDL FRRTDGRCLI WGRKPKVIEC SYTSADGQRH HSKLLVSGFW GVARHFNYVG DLMGSLAYCL ACGGGHLLPY FYIIYMAILL THRCLRDEHR CASKYGRDWE RYTAAVPYRL LPGIF* | |||||||||||||
| Position of stopcodon in wt / mu CDS | 1428 / 1428 | |||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 476 / 476 | |||||||||||||
| Position of stopcodon in wt / mu cDNA | 1896 / 1896 | |||||||||||||
| Position of start ATG in wt / mu cDNA | 469 / 469 | |||||||||||||
| Last intron/exon boundary | 1431 | |||||||||||||
| Theoretical NMD boundary in CDS | 912 | |||||||||||||
| Length of CDS | 1428 | |||||||||||||
| Coding sequence (CDS) position | 452 | |||||||||||||
| cDNA position | 920 | |||||||||||||
| gDNA position | 11468 | |||||||||||||
| Chromosomal position | 71441401 | |||||||||||||
| Speed | 0.06 s | |||||||||||||
All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
| Analysed issue | Analysis result | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Variant | Chr11:71441401C>A (GRCh38) | |||||||||||||
| Gene symbol | DHCR7 | |||||||||||||
| Gene constraints | LOEUF: 1.09, LOF (oe): 0.84, misssense (oe): 0.92, synonymous (oe): 1.08 (gnomAD) | |||||||||||||
| Ensembl transcript ID | ENST00000407721.6 | |||||||||||||
| Genbank transcript ID | NM_001163817 (by similarity) | |||||||||||||
| UniProt / AlphaMissense peptide | DHCR7_HUMAN | AlphaMissense: transcript, gene | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | CDS | |||||||||||||
| DNA changes | c.452G>T g.11468G>T | |||||||||||||
| AA changes |
| |||||||||||||
| Frameshift | No | |||||||||||||
| Length of protein | Normal | |||||||||||||
| Pathogenic variant (ClinVar) | Variant not listed in ClinVar as (likely) pathogenic. | |||||||||||||
| Variant DBs |
| |||||||||||||
| Protein conservation | ||||||||||||||
| Protein features |
| |||||||||||||
| Phylogenetic conservation |
| |||||||||||||
| Splice sites | No abrogation of potential splice sites predicted by MaxEntScan. | |||||||||||||
| Distance from splice site | N/A | |||||||||||||
| Kozak consensus sequence altered? | No | |||||||||||||
| poly(A) signal | N/A | |||||||||||||
| AA sequence altered | Yes | |||||||||||||
| Chromosome | 11 | |||||||||||||
| Strand | -1 | |||||||||||||
| Original gDNA sequence snippet | GATCAATGGCCTGCAAGCCTGGCTCCTCACGCACCTGCTCT | |||||||||||||
| Altered gDNA sequence snippet | GATCAATGGCCTGCAAGCCTTGCTCCTCACGCACCTGCTCT | |||||||||||||
| Original cDNA sequence snippet | GATCAATGGCCTGCAAGCCTGGCTCCTCACGCACCTGCTCT | |||||||||||||
| Altered cDNA sequence snippet | GATCAATGGCCTGCAAGCCTTGCTCCTCACGCACCTGCTCT | |||||||||||||
| Wildtype AA sequence | MAAKSQPNIP KAKSLDGVTN DRTASQGQWG RAWEVDWFSL ASVIFLLLFA PFIVYYFIMA CDQYSCALTG PVVDIVTGHA RLSDIWAKTP PITRKAAQLY TLWVTFQVLL YTSLPDFCHK FLPGYVGGIQ EGAVTPAGVV NKYQINGLQA WLLTHLLWFA NAHLLSWFSP TIIFDNWIPL LWCANILGYA VSTFAMVKGY FFPTSARDCK FTGNFFYNYM MGIEFNPRIG KWFDFKLFFN GRPGIVAWTL INLSFAAKQR ELHSHVTNAM VLVNVLQAIY VIDFFWNETW YLKTIDICHD HFGWYLGWGD CVWLPYLYTL QGLYLVYHPV QLSTPHAVGV LLLGLVGYYI FRVANHQKDL FRRTDGRCLI WGRKPKVIEC SYTSADGQRH HSKLLVSGFW GVARHFNYVG DLMGSLAYCL ACGGGHLLPY FYIIYMAILL THRCLRDEHR CASKYGRDWE RYTAAVPYRL LPGIF* | |||||||||||||
| Mutated AA sequence | MAAKSQPNIP KAKSLDGVTN DRTASQGQWG RAWEVDWFSL ASVIFLLLFA PFIVYYFIMA CDQYSCALTG PVVDIVTGHA RLSDIWAKTP PITRKAAQLY TLWVTFQVLL YTSLPDFCHK FLPGYVGGIQ EGAVTPAGVV NKYQINGLQA LLLTHLLWFA NAHLLSWFSP TIIFDNWIPL LWCANILGYA VSTFAMVKGY FFPTSARDCK FTGNFFYNYM MGIEFNPRIG KWFDFKLFFN GRPGIVAWTL INLSFAAKQR ELHSHVTNAM VLVNVLQAIY VIDFFWNETW YLKTIDICHD HFGWYLGWGD CVWLPYLYTL QGLYLVYHPV QLSTPHAVGV LLLGLVGYYI FRVANHQKDL FRRTDGRCLI WGRKPKVIEC SYTSADGQRH HSKLLVSGFW GVARHFNYVG DLMGSLAYCL ACGGGHLLPY FYIIYMAILL THRCLRDEHR CASKYGRDWE RYTAAVPYRL LPGIF* | |||||||||||||
| Position of stopcodon in wt / mu CDS | 1428 / 1428 | |||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 476 / 476 | |||||||||||||
| Position of stopcodon in wt / mu cDNA | 1640 / 1640 | |||||||||||||
| Position of start ATG in wt / mu cDNA | 213 / 213 | |||||||||||||
| Last intron/exon boundary | 1175 | |||||||||||||
| Theoretical NMD boundary in CDS | 912 | |||||||||||||
| Length of CDS | 1428 | |||||||||||||
| Coding sequence (CDS) position | 452 | |||||||||||||
| cDNA position | 664 | |||||||||||||
| gDNA position | 11468 | |||||||||||||
| Chromosomal position | 71441401 | |||||||||||||
| Speed | 0.05 s | |||||||||||||
All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
| Analysed issue | Analysis result | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Variant | Chr11:71441401C>A (GRCh38) | |||||||||||||
| Gene symbol | DHCR7 | |||||||||||||
| Gene constraints | LOEUF: 1.04, LOF (oe): 0.78, misssense (oe): 0.92, synonymous (oe): 1.09 (gnomAD) | |||||||||||||
| Ensembl transcript ID | ENST00000527316.6 | |||||||||||||
| Genbank transcript ID | ||||||||||||||
| UniProt / AlphaMissense peptide | N/A | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | CDS | |||||||||||||
| DNA changes | c.278G>T g.11468G>T | |||||||||||||
| AA changes |
| |||||||||||||
| Frameshift | No | |||||||||||||
| Length of protein | Normal | |||||||||||||
| Pathogenic variant (ClinVar) | Variant not listed in ClinVar as (likely) pathogenic. | |||||||||||||
| Variant DBs |
| |||||||||||||
| Protein conservation | ||||||||||||||
| Protein features | N/A | |||||||||||||
| Phylogenetic conservation |
| |||||||||||||
| Splice sites | No abrogation of potential splice sites predicted by MaxEntScan. | |||||||||||||
| Distance from splice site | N/A | |||||||||||||
| Kozak consensus sequence altered? | No | |||||||||||||
| poly(A) signal | N/A | |||||||||||||
| AA sequence altered | Yes | |||||||||||||
| Chromosome | 11 | |||||||||||||
| Strand | -1 | |||||||||||||
| Original gDNA sequence snippet | GATCAATGGCCTGCAAGCCTGGCTCCTCACGCACCTGCTCT | |||||||||||||
| Altered gDNA sequence snippet | GATCAATGGCCTGCAAGCCTTGCTCCTCACGCACCTGCTCT | |||||||||||||
| Original cDNA sequence snippet | GATCAATGGCCTGCAAGCCTGGCTCCTCACGCACCTGCTCT | |||||||||||||
| Altered cDNA sequence snippet | GATCAATGGCCTGCAAGCCTTGCTCCTCACGCACCTGCTCT | |||||||||||||
| Wildtype AA sequence | MACDQYSCAL TGPVVDIVTG HARLSDIWAK TPPITRKAAQ LYTLWVTFQV LLYTSLPDFC HKFLPGYVGG IQEGAVTPAG VVNKYQINGL QAWLLTHLLW FANAHLLSWF SPTIIFDNWI PLLWCANILG YAVSTFAMVK GYFFPTSARD CKFTGNFFYN YMMGIEFNPR IGKWFDFKLF FNGRPGIVAW TLINLSFAAK QRELHSHVTN AMVLVNVLQA IYVIDFFWNE TWYLKTIDIC HDHFGWYLGW GDCVWLPYLY TLQGLYLVYH PVQLSTPHAV GVLLLGLVGY YIFRVANHQK DLFRRTDGRC LIWGRKPKVI ECSYTSADGQ RHHSKLLVSG FWGVARHFNY VGDLMGSLAY CLACGGGHLL PYFYIIYMAI LLTHRCLRDE HRCASKYGRD WERYTAAVPY RLLPGIF* | |||||||||||||
| Mutated AA sequence | MACDQYSCAL TGPVVDIVTG HARLSDIWAK TPPITRKAAQ LYTLWVTFQV LLYTSLPDFC HKFLPGYVGG IQEGAVTPAG VVNKYQINGL QALLLTHLLW FANAHLLSWF SPTIIFDNWI PLLWCANILG YAVSTFAMVK GYFFPTSARD CKFTGNFFYN YMMGIEFNPR IGKWFDFKLF FNGRPGIVAW TLINLSFAAK QRELHSHVTN AMVLVNVLQA IYVIDFFWNE TWYLKTIDIC HDHFGWYLGW GDCVWLPYLY TLQGLYLVYH PVQLSTPHAV GVLLLGLVGY YIFRVANHQK DLFRRTDGRC LIWGRKPKVI ECSYTSADGQ RHHSKLLVSG FWGVARHFNY VGDLMGSLAY CLACGGGHLL PYFYIIYMAI LLTHRCLRDE HRCASKYGRD WERYTAAVPY RLLPGIF* | |||||||||||||
| Position of stopcodon in wt / mu CDS | 1254 / 1254 | |||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 418 / 418 | |||||||||||||
| Position of stopcodon in wt / mu cDNA | 1732 / 1732 | |||||||||||||
| Position of start ATG in wt / mu cDNA | 479 / 479 | |||||||||||||
| Last intron/exon boundary | 1267 | |||||||||||||
| Theoretical NMD boundary in CDS | 738 | |||||||||||||
| Length of CDS | 1254 | |||||||||||||
| Coding sequence (CDS) position | 278 | |||||||||||||
| cDNA position | 756 | |||||||||||||
| gDNA position | 11468 | |||||||||||||
| Chromosomal position | 71441401 | |||||||||||||
| Speed | 0.04 s | |||||||||||||
All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
| Analysed issue | Analysis result | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Variant | Chr11:71441401C>A (GRCh38) | |||||||||||||
| Gene symbol | DHCR7 | |||||||||||||
| Gene constraints | LOEUF: 1.11, LOF (oe): 0.86, misssense (oe): 0.92, synonymous (oe): 1.08 (gnomAD) | |||||||||||||
| Ensembl transcript ID | ENST00000683287.1 | |||||||||||||
| Genbank transcript ID | NM_001425108 (by similarity) | |||||||||||||
| UniProt / AlphaMissense peptide | N/A | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | CDS | |||||||||||||
| DNA changes | c.488G>T g.11468G>T | |||||||||||||
| AA changes |
| |||||||||||||
| Frameshift | No | |||||||||||||
| Length of protein | Normal | |||||||||||||
| Pathogenic variant (ClinVar) | Variant not listed in ClinVar as (likely) pathogenic. | |||||||||||||
| Variant DBs |
| |||||||||||||
| Protein conservation | ||||||||||||||
| Protein features | N/A | |||||||||||||
| Phylogenetic conservation |
| |||||||||||||
| Splice sites | No abrogation of potential splice sites predicted by MaxEntScan. | |||||||||||||
| Distance from splice site | N/A | |||||||||||||
| Kozak consensus sequence altered? | No | |||||||||||||
| poly(A) signal | N/A | |||||||||||||
| AA sequence altered | Yes | |||||||||||||
| Chromosome | 11 | |||||||||||||
| Strand | -1 | |||||||||||||
| Original gDNA sequence snippet | GATCAATGGCCTGCAAGCCTGGCTCCTCACGCACCTGCTCT | |||||||||||||
| Altered gDNA sequence snippet | GATCAATGGCCTGCAAGCCTTGCTCCTCACGCACCTGCTCT | |||||||||||||
| Original cDNA sequence snippet | GATCAATGGCCTGCAAGCCTGGCTCCTCACGCACCTGCTCT | |||||||||||||
| Altered cDNA sequence snippet | GATCAATGGCCTGCAAGCCTTGCTCCTCACGCACCTGCTCT | |||||||||||||
| Wildtype AA sequence | MAAKSQPNIP KAKSLDGVTN DRTASQGQWG RAWEVDWFSL ASVIFLLLFA PFIVYYFIMA CDQYSCALTG PVVDIVTGHA RLSDIWAKTP PITRKAAQLY TLWVTFQVSS PCPGVGTQQV LLYTSLPDFC HKFLPGYVGG IQEGAVTPAG VVNKYQINGL QAWLLTHLLW FANAHLLSWF SPTIIFDNWI PLLWCANILG YAVSTFAMVK GYFFPTSARD CKFTGNFFYN YMMGIEFNPR IGKWFDFKLF FNGRPGIVAW TLINLSFAAK QRELHSHVTN AMVLVNVLQA IYVIDFFWNE TWYLKTIDIC HDHFGWYLGW GDCVWLPYLY TLQGLYLVYH PVQLSTPHAV GVLLLGLVGY YIFRVANHQK DLFRRTDGRC LIWGRKPKVI ECSYTSADGQ RHHSKLLVSG FWGVARHFNY VGDLMGSLAY CLACGGGHLL PYFYIIYMAI LLTHRCLRDE HRCASKYGRD WERYTAAVPY RLLPGIF* | |||||||||||||
| Mutated AA sequence | MAAKSQPNIP KAKSLDGVTN DRTASQGQWG RAWEVDWFSL ASVIFLLLFA PFIVYYFIMA CDQYSCALTG PVVDIVTGHA RLSDIWAKTP PITRKAAQLY TLWVTFQVSS PCPGVGTQQV LLYTSLPDFC HKFLPGYVGG IQEGAVTPAG VVNKYQINGL QALLLTHLLW FANAHLLSWF SPTIIFDNWI PLLWCANILG YAVSTFAMVK GYFFPTSARD CKFTGNFFYN YMMGIEFNPR IGKWFDFKLF FNGRPGIVAW TLINLSFAAK QRELHSHVTN AMVLVNVLQA IYVIDFFWNE TWYLKTIDIC HDHFGWYLGW GDCVWLPYLY TLQGLYLVYH PVQLSTPHAV GVLLLGLVGY YIFRVANHQK DLFRRTDGRC LIWGRKPKVI ECSYTSADGQ RHHSKLLVSG FWGVARHFNY VGDLMGSLAY CLACGGGHLL PYFYIIYMAI LLTHRCLRDE HRCASKYGRD WERYTAAVPY RLLPGIF* | |||||||||||||
| Position of stopcodon in wt / mu CDS | 1464 / 1464 | |||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 488 / 488 | |||||||||||||
| Position of stopcodon in wt / mu cDNA | 1741 / 1741 | |||||||||||||
| Position of start ATG in wt / mu cDNA | 278 / 278 | |||||||||||||
| Last intron/exon boundary | 1276 | |||||||||||||
| Theoretical NMD boundary in CDS | 948 | |||||||||||||
| Length of CDS | 1464 | |||||||||||||
| Coding sequence (CDS) position | 488 | |||||||||||||
| cDNA position | 765 | |||||||||||||
| gDNA position | 11468 | |||||||||||||
| Chromosomal position | 71441401 | |||||||||||||
| Speed | 0.06 s | |||||||||||||
All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
| Analysed issue | Analysis result | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Variant | Chr11:71441401C>A (GRCh38) | |||||||||||||
| Gene symbol | DHCR7 | |||||||||||||
| Gene constraints | LOEUF: 1.09, LOF (oe): 0.84, misssense (oe): 0.92, synonymous (oe): 1.08 (gnomAD) | |||||||||||||
| Ensembl transcript ID | ENST00000682708.1 | |||||||||||||
| Genbank transcript ID | NM_001425107 (by similarity) | |||||||||||||
| UniProt / AlphaMissense peptide | N/A | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | CDS | |||||||||||||
| DNA changes | c.452G>T g.11468G>T | |||||||||||||
| AA changes |
| |||||||||||||
| Frameshift | No | |||||||||||||
| Length of protein | Normal | |||||||||||||
| Pathogenic variant (ClinVar) | Variant not listed in ClinVar as (likely) pathogenic. | |||||||||||||
| Variant DBs |
| |||||||||||||
| Protein conservation | ||||||||||||||
| Protein features | N/A | |||||||||||||
| Phylogenetic conservation |
| |||||||||||||
| Splice sites | No abrogation of potential splice sites predicted by MaxEntScan. | |||||||||||||
| Distance from splice site | N/A | |||||||||||||
| Kozak consensus sequence altered? | No | |||||||||||||
| poly(A) signal | N/A | |||||||||||||
| AA sequence altered | Yes | |||||||||||||
| Chromosome | 11 | |||||||||||||
| Strand | -1 | |||||||||||||
| Original gDNA sequence snippet | GATCAATGGCCTGCAAGCCTGGCTCCTCACGCACCTGCTCT | |||||||||||||
| Altered gDNA sequence snippet | GATCAATGGCCTGCAAGCCTTGCTCCTCACGCACCTGCTCT | |||||||||||||
| Original cDNA sequence snippet | GATCAATGGCCTGCAAGCCTGGCTCCTCACGCACCTGCTCT | |||||||||||||
| Altered cDNA sequence snippet | GATCAATGGCCTGCAAGCCTTGCTCCTCACGCACCTGCTCT | |||||||||||||
| Wildtype AA sequence | MAAKSQPNIP KAKSLDGVTN DRTASQGQWG RAWEVDWFSL ASVIFLLLFA PFIVYYFIMA CDQYSCALTG PVVDIVTGHA RLSDIWAKTP PITRKAAQLY TLWVTFQVLL YTSLPDFCHK FLPGYVGGIQ EGAVTPAGVV NKYQINGLQA WLLTHLLWFA NAHLLSWFSP TIIFDNWIPL LWCANILGYA VSTFAMVKGY FFPTSARDCF PGEPCWLVPI PMAGQCKFTG NFFYNYMMGI EFNPRIGKWF DFKLFFNGRP GIVAWTLINL SFAAKQRELH SHVTNAMVLV NVLQAIYVID FFWNETWYLK TIDICHDHFG WYLGWGDCVW LPYLYTLQGL YLVYHPVQLS TPHAVGVLLL GLVGYYIFRV ANHQKDLFRR TDGRCLIWGR KPKVIECSYT SADGQRHHSK LLVSGFWGVA RHFNYVGDLM GSLAYCLACG GGHLLPYFYI IYMAILLTHR CLRDEHRCAS KYGRDWERYT AAVPYRLLPG IF* | |||||||||||||
| Mutated AA sequence | MAAKSQPNIP KAKSLDGVTN DRTASQGQWG RAWEVDWFSL ASVIFLLLFA PFIVYYFIMA CDQYSCALTG PVVDIVTGHA RLSDIWAKTP PITRKAAQLY TLWVTFQVLL YTSLPDFCHK FLPGYVGGIQ EGAVTPAGVV NKYQINGLQA LLLTHLLWFA NAHLLSWFSP TIIFDNWIPL LWCANILGYA VSTFAMVKGY FFPTSARDCF PGEPCWLVPI PMAGQCKFTG NFFYNYMMGI EFNPRIGKWF DFKLFFNGRP GIVAWTLINL SFAAKQRELH SHVTNAMVLV NVLQAIYVID FFWNETWYLK TIDICHDHFG WYLGWGDCVW LPYLYTLQGL YLVYHPVQLS TPHAVGVLLL GLVGYYIFRV ANHQKDLFRR TDGRCLIWGR KPKVIECSYT SADGQRHHSK LLVSGFWGVA RHFNYVGDLM GSLAYCLACG GGHLLPYFYI IYMAILLTHR CLRDEHRCAS KYGRDWERYT AAVPYRLLPG IF* | |||||||||||||
| Position of stopcodon in wt / mu CDS | 1479 / 1479 | |||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 493 / 493 | |||||||||||||
| Position of stopcodon in wt / mu cDNA | 1756 / 1756 | |||||||||||||
| Position of start ATG in wt / mu cDNA | 278 / 278 | |||||||||||||
| Last intron/exon boundary | 1291 | |||||||||||||
| Theoretical NMD boundary in CDS | 963 | |||||||||||||
| Length of CDS | 1479 | |||||||||||||
| Coding sequence (CDS) position | 452 | |||||||||||||
| cDNA position | 729 | |||||||||||||
| gDNA position | 11468 | |||||||||||||
| Chromosomal position | 71441401 | |||||||||||||
| Speed | 0.03 s | |||||||||||||
All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
| Analysed issue | Analysis result | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Variant | Chr11:71441401C>A (GRCh38) | |||||||||||||
| Gene symbol | DHCR7 | |||||||||||||
| Gene constraints | LOEUF: 1.10, LOF (oe): 0.75, misssense (oe): 0.90, synonymous (oe): 1.03 (gnomAD) | |||||||||||||
| Ensembl transcript ID | ENST00000685320.1 | |||||||||||||
| Genbank transcript ID | ||||||||||||||
| UniProt / AlphaMissense peptide | N/A | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | 5'UTR | |||||||||||||
| DNA changes | cDNA.357G>T g.11468G>T | |||||||||||||
| AA changes | N/A | |||||||||||||
| Frameshift | No | |||||||||||||
| Length of protein | N/A | |||||||||||||
| Pathogenic variant (ClinVar) | Variant not listed in ClinVar as (likely) pathogenic. | |||||||||||||
| Variant DBs |
| |||||||||||||
| Protein conservation | N/A | |||||||||||||
| Protein features | N/A | |||||||||||||
| Phylogenetic conservation |
| |||||||||||||
| Splice sites | No abrogation of potential splice sites predicted by MaxEntScan. | |||||||||||||
| Distance from splice site | N/A | |||||||||||||
| Kozak consensus sequence altered? | No | |||||||||||||
| poly(A) signal | N/A | |||||||||||||
| AA sequence altered | N/A | |||||||||||||
| Chromosome | 11 | |||||||||||||
| Strand | -1 | |||||||||||||
| Original gDNA sequence snippet | GATCAATGGCCTGCAAGCCTGGCTCCTCACGCACCTGCTCT | |||||||||||||
| Altered gDNA sequence snippet | GATCAATGGCCTGCAAGCCTTGCTCCTCACGCACCTGCTCT | |||||||||||||
| Original cDNA sequence snippet | GATCAATGGCCTGCAAGCCTGGCTCCTCACGCACCTGCTCT | |||||||||||||
| Altered cDNA sequence snippet | GATCAATGGCCTGCAAGCCTTGCTCCTCACGCACCTGCTCT | |||||||||||||
| Wildtype AA sequence | MVKGYFFPTS ARDCKFTGNF FYNYMMGIEF NPRIGKWFDF KLFFNGRPGI VAWTLINLSF AAKQRELHSH VTNAMVLVNV LQAIYVIDFF WNETWYLKTI DICHDHFGWY LGWGDCVWLP YLYTLQGLYL VYHPVQLSTP HAVGVLLLGL VGYYIFRVAN HQKDLFRRTD GRCLIWGRKP KVIECSYTSA DGQRHHSKLL VSGFWGVARH FNYVGDLMGS LAYCLACGGG HLLPYFYIIY MAILLTHRCL RDEHRCASKY GRDWERYTAA VPYRLLPGIF * | |||||||||||||
| Mutated AA sequence | ||||||||||||||
| Position of stopcodon in wt / mu CDS | N/A | |||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | N/A | |||||||||||||
| Position of stopcodon in wt / mu cDNA | N/A | |||||||||||||
| Position of start ATG in wt / mu cDNA | 491 / 491 | |||||||||||||
| Last intron/exon boundary | 868 | |||||||||||||
| Theoretical NMD boundary in CDS | 327 | |||||||||||||
| Length of CDS | 843 | |||||||||||||
| Coding sequence (CDS) position | N/A | |||||||||||||
| cDNA position | 357 | |||||||||||||
| gDNA position | 11468 | |||||||||||||
| Chromosomal position | 71441401 | |||||||||||||
| Speed | 0.01 s | |||||||||||||
All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project